Canonical Allele Identifier: CA456481589

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123847T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494533T>A , CM000669.2:g.92494533T>A	GRCh38
NC_000007.13:g.92123847T>A , CM000669.1:g.92123847T>A	GRCh37
NC_000007.12:g.91961783T>A	NCBI36
NG_008341.1:g.38999A>T
NG_008341.2:g.38999A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2880A>T (PEX1) MANE Select	ENSP00000248633.4:p.Val960=
ENST00000248633.8:c.2880A>T (PEX1)	ENSP00000248633.4:p.Val960=
ENST00000428214.5:c.2709A>T (PEX1)	ENSP00000394413.1:p.Val903=
ENST00000438045.5:c.1914A>T (PEX1)	ENSP00000410438.1:p.Val638=
ENST00000484913.5:n.2919A>T (PEX1)
ENST00000496420.5:n.2772A>T (PEX1)
NM_000466.2:c.2880A>T (PEX1)	NP_000457.1:p.Val960=
NM_001282677.1:c.2709A>T (PEX1)	NP_001269606.1:p.Val903=
NM_001282678.1:c.2256A>T (PEX1)	NP_001269607.1:p.Val752=
XM_005250433.3:c.1131A>T (PEX1)	XP_005250490.1:p.Val377=
XR_242246.3:n.2976A>T (PEX1)
XM_017012319.2:c.1131A>T (PEX1)	XP_016867808.1:p.Val377=
XR_001744808.2:n.1907A>T (PEX1)
XR_001744843.2:n.5502T>A (GATAD1)
XR_242246.5:n.2927A>T (PEX1)
XR_927494.3:n.4353T>A (GATAD1)
XR_927503.3:n.4284T>A (GATAD1)
NM_000466.3:c.2880A>T (PEX1) MANE Select	NP_000457.1:p.Val960=
NM_001282677.2:c.2709A>T (PEX1)	NP_001269606.1:p.Val903=
NM_001282678.2:c.2256A>T (PEX1)	NP_001269607.1:p.Val752=